| 1. |
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| 2. |
- Charise, A, et al.
(author)
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Questioning Context: A set of interdisciplinary questions for investigating contextual factors affecting health decision-making
- 2011
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In: Health Expectations. - : Wiley. - 1369-7625 .- 1369-6513. ; 14:2, s. 115-132
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Journal article (peer-reviewed)abstract
- Objective: To combine insights from multiple disciplines into a set of questions that can be used to investigate contextual factors affecting health decision making.Background: Decision-making processes and outcomes may be shaped by a range of non-medical or contextual factors particular to an individual including social, economic, political, geographical and institutional conditions. Research concerning contextual factors occurs across many disciplines and theoretical domains, but few conceptual tools have attempted to integrate and translate this wide ranging research for health decision-making purposes.Methods: To formulate this tool we employed an iterative, collaborative process of scenario development and question generation. Five hypothetical health decision-making scenarios (preventative, screening, curative, supportive and palliative) were developed and used to generate a set of exploratory questions that aim to highlight potential contextual factors across a range of health decisions. Findings: We present an exploratory tool consisting of questions organized into four thematic domains – Bodies, Technologies, Place and Work (BTPW) – articulating wide-ranging contextual factors relevant to health decision making. The BTPW tool encompasseshealth-related scholarship and research from a range of disciplines pertinent to health decision making, and identifies concrete points of intersection between its four thematic domains. Examples of the practical application of the questions are also provided.
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| 3. |
- Ehrenberg, M, et al.
(author)
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The logic of life
- 2003
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In: GENOME RESEARCH. - : Cold Spring Harbor Laboratory. - 1088-9051. ; 13:11, s. 2375-2376
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Journal article (other academic/artistic)
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| 4. |
- Elf, J L, et al.
(author)
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Clinical probability assessment and D-dimer determination in patients with suspected deep vein thrombosis, a prospective multicenter management study.
- 2009
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In: Thrombosis Research. - : Elsevier BV. - 1879-2472 .- 0049-3848. ; May 29, s. 612-616
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Journal article (peer-reviewed)abstract
- OBJECTIVES: To investigate the reliability of a combined strategy of clinical assessment score followed by a local D-dimer test to exclude deep vein thrombosis. For comparison D-dimer was analysed post hoc and batchwise at a coagulation laboratory. DESIGN: Prospective multicenter management study. SETTING: Seven hospitals in southern Sweden. SUBJECTS: 357 patients with a suspected first episode of deep vein thrombosis (DVT) were prospectively recruited and pre-test probability score (Wells score) was estimated by the emergency physician. If categorized as low pre-test probability, D-dimer was analysed and if negative, DVT was considered to be ruled out. The primary outcome was recurrent venous thromboembolism (VTE) during 3 months of follow up. RESULTS: Prevalence of DVT was 23.5% (84/357). A low pre-test probability and a negative D-dimer result at inclusion was found in 31% (110/357) of the patients of whom one (0.9%, [95% CI 0.02-4.96]) had a VTE at follow up. Sensitivity, specificity, negative predictive value and negative likelihood ratio for our local D-dimer test in the low probability group were 85.7%, 74.5%, 98.2%, and 0,19 respectively compared to 85.6%, 67,6%, 97.9% and 0,23 using batchwise analysis at a coagulation laboratory. CONCLUSION: Pre-test probability score and D-dimer safely rule out DVT in about 30% of outpatients with a suspected first episode of DVT. One out of 110 patients was diagnosed with DVT during follow up. No significant difference in diagnostic performance was seen between local D-dimer test and the post hoc batch analysis with the same reagent in the low probability group.
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| 5. |
- Geersing, G. J., et al.
(author)
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Exclusion of deep vein thrombosis using the Wells rule in clinically important subgroups: individual patient data meta-analysis
- 2014
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In: BMJ: British Medical Journal. - : BMJ. - 1756-1833. ; 348, s. 1340-1340
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Journal article (peer-reviewed)abstract
- Objective To assess the accuracy of the Wells rule for excluding deep vein thrombosis and whether this accuracy applies to different subgroups of patients. Design Meta-analysis of individual patient data. Data sources Authors of 13 studies (n=10 002) provided their datasets, and these individual patient data were merged into one dataset. Eligibility criteria Studies were eligible if they enrolled consecutive outpatients with suspected deep vein thrombosis, scored all variables of the Wells rule, and performed an appropriate reference standard. Main outcome measures Multilevel logistic regression models, including an interaction term for each subgroup, were used to estimate differences in predicted probabilities of deep vein thrombosis by the Wells rule. In addition, D-dimer testing was added to assess differences in the ability to exclude deep vein thrombosis using an unlikely score on the Wells rule combined with a negative D-dimer test result. Results Overall, increasing scores on the Wells rule were associated with an increasing probability of having deep vein thrombosis. Estimated probabilities were almost twofold higher in patients with cancer, in patients with suspected recurrent events, and (to a lesser extent) in males. An unlikely score on the Wells rule (<= 1) combined with a negative D-dimer test result was associated with an extremely low probability of deep vein thrombosis (1.2%, 95% confidence interval 0.7% to 1.8%). This combination occurred in 29% (95% confidence interval 20% to 40%) of patients. These findings were consistent in subgroups defined by type of D-dimer assay (quantitative or qualitative), sex, and care setting (primary or hospital care). For patients with cancer, the combination of an unlikely score on the Wells rule and a negative D-dimer test result occurred in only 9% of patients and was associated with a 2.2% probability of deep vein thrombosis being present. In patients with suspected recurrent events, only the modified Wells rule (adding one point for the previous event) is safe. Conclusion Combined with a negative D-dimer test result (both quantitative and qualitative), deep vein thrombosis can be excluded in patients with an unlikely score on the Wells rule. This finding is true for both sexes, as well as for patients presenting in primary and hospital care. In patients with cancer, the combination is neither safe nor efficient. For patients with suspected recurrent disease, one extra point should be added to the rule to enable a safe exclusion.
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| 6. |
- Manderstedt, Eric, et al.
(author)
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Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle-aged and older adults: A population-based cohort study
- 2022
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In: Research and practice in thrombosis and haemostasis. - : Elsevier BV. - 2475-0379. ; 6:7
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Journal article (peer-reviewed)abstract
- Background: Tissue factor is the main initiator of blood coagulation, and tissue factor pathway inhibitor (TFPI) is the primary inhibitor of the initiation of blood coagulation. The genetic variation of TFPI and the relation to venous thromboembolism (VTE), that is, venous thrombosis and pulmonary embolism, remains to be clarified. This exome sequencing study aimed to determine the molecular epidemiology of the TFPI gene and the relation to VTE in a large population-based cohort of middle-aged and older adults. Methods: The exomes of TFPI were analyzed for variants in 28,794 subjects without previous VTE (born 1923–1950, 60% women), who participated in the Malmö Diet and Cancer Study (1991–1996). Patients were followed until the first event of VTE, death, or 2018. Qualifying variants were defined as loss-of-function or nonbenign (PolyPhen-2) missense variants with minor allele frequency less than 0.1%. Results: No common variant was associated with VTE. Nine rare variants (two loss-of-function and seven nonbenign missense) were classified as qualifying and included in collapsing analysis. Prevalence of qualifying variants was 0.09%. Five individuals with VTE compared to 17 individuals without VTE carried one qualifying variant. Cox multivariate regression analysis adjusted for age, sex, body mass index, systolic blood pressure, smoking and alcohol consumption, rs6025, rs1799963, and ancestry showed a hazard ratio of 2.9 (95% CI, 1.2–7.1) for rare qualifying variants. Conclusion: Rare qualifying TFPI variants were associated with VTE, suggesting that rare variants in TFPI contribute to the development of VTE. The qualifying TFPI gene variants were very rare, suggesting a constrained gene. © 2022 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis (ISTH).
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| 7. |
- Manderstedt, Eric, et al.
(author)
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Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study
- 2022
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In: Journal of Thrombosis and Haemostasis. - : Elsevier BV. - 1538-7933 .- 1538-7836. ; 20:6
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Journal article (peer-reviewed)abstract
- Background: Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case-control study. Objectives: This study aimed to determine the genetic variation in the SERPINA1 gene and a possible thrombotic risk of these variants in a population-based cohort study. Patients/Methods: The coding sequence of SERPINA1 was analyzed for the Z (rs28929474), S (rs17580), and other qualifying variants in 28,794 subjects without previous VTE (born 1923–1950, 60% women), who participated in the Malmö Diet and Cancer study (1991–1996). Individuals were followed from baseline until the first event of VTE, death, or 2018. Results: Resequencing the coding sequence of SERPINA1 identified 84 variants in the total study population, 21 synonymous, 62 missense, and 1 loss-of-function variant. Kaplan-Meier analysis showed that homozygosity for the Z allele increased the risk of VTE whereas heterozygosity showed no effect. The S (rs17580) variant was not associated with VTE. Thirty-one rare variants were qualifying and included in collapsing analysis using the following selection criteria, loss of function, in frame deletion or non-benign (PolyPhen-2) missense variants with minor allele frequency (MAF)
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| 8. |
- Ahmad, Abrar, et al.
(author)
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Evaluation of Expression Level of Apolipoprotein M as a Diagnostic Marker for Primary Venous Thromboembolism
- 2018
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In: Clinical and Applied Thrombosis/Hemostasis. - : SAGE Publications. - 1938-2723 .- 1076-0296. ; 24:3, s. 416-422
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Journal article (peer-reviewed)abstract
- Recently, decreased levels of apolipoprotein M (ApoM) were shown to be associated with higher risk of recurrent venous thromboembolism (VTE) in male patients. However, the role of ApoM in primary VTE is unknown. We aimed in our study to analyze the plasma levels of ApoM in patients with VTE in order to evaluate the diagnostic importance of ApoM in primary VTE. A total of 357 patients with suspected first episode of VTE were recruited prospectively in the SCORE study. Plasma samples from 307 patients were available for quantifying the plasma levels of ApoM in patients with VTE using sandwich enzyme-linked immunosorbent assay method. Among the whole population, plasma levels (mean [standard deviation]) of ApoM were not significantly different between patients with VTE (0.72 [0.20]) and non-VTE patients (0.72 [0.16]), P = .99. Similarly, in regression analyses, no significant association of ApoM plasma levels with the risk of VTE was found on univariate (odds ratio [OR] =1.0, 95% confidence interval [CI] 0.21-4.84, P = .99) and multivariate analysis (OR = 1.25, 95% CI = 0.19-8.34, P = .819) after adjusting for age, body mass index, and smoking. Moreover, results did not differ significantly after stratification of data according to sex ( P > .05). In this study, our results do not suggest a diagnostic role for ApoM plasma levels in patients with primary VTE. Moreover, the current study suggests that role of ApoM as a risk factor may differ for primary VTE and recurrent VTE in male patients.
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| 9. |
- Anåker, Anna, et al.
(author)
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A comparative study of patients' activities and interactions in a stroke unit before and after reconstruction-The significance of the built environment
- 2017
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In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203 .- 1932-6203. ; 12:7, s. Article no e0177477-
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Journal article (peer-reviewed)abstract
- Early mobilization and rehabilitation, multidisciplinary stroke expertise and comprehensive therapies are fundamental in a stroke unit. To achieve effective and safe stroke care, the physical environment in modern stroke units should facilitate the delivery of evidence-based care. Therefore, the purpose of this study was to explore patients' activities and interactions in a stroke unit before the reconstruction of the physical environment, while in a temporary location and after reconstruction. This case study examined a stroke unit as an integrated whole. The data were collected using a behavioral mapping technique at three different time points: in the original unit, in the temporary unit and in the new unit. A total of 59 patients were included. The analysis included field notes from observations of the physical environment and examples from planning and design documents. The findings indicated that in the new unit, the patients spent more time in their rooms, were less active, and had fewer interactions with staff and family than the patients in the original unit. The reconstruction involved a change from a primarily multi-bed room design to single-room accommodations. In the new unit, the patients' lounge was located in a far corner of the unit with a smaller entrance than the patients' lounge in the old unit, which was located at the end of a corridor with a noticeable entrance. Changes in the design of the stroke unit may have influenced the patients' activities and interactions. This study raises the question of how the physical environment should be designed in the future to facilitate the delivery of health care and improve outcomes for stroke patients. This research is based on a case study, and although the results should be interpreted with caution, we strongly recommend that environmental considerations be included in future stroke guidelines.
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| 10. |
- Brink, Annie, et al.
(author)
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Sex-Specific Risk Factors for Deep Venous Thrombosis and Pulmonary Embolism in a Population-Based Historical Cohort Study of Middle-Aged and Older Individuals
- 2023
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In: Journal of the American Heart Association. - 2047-9980. ; 12:5, s. 1-13
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Journal article (peer-reviewed)abstract
- BACKGROUND: Whether sex-specific differences exist for risk factors for pulmonary embolism (PE) and deep venous thrombosis (DVT), with the exception of pregnancy and estrogen therapy, has been sparsely studied. We aimed to study whether sex-specific differences of risk factors exist for noncancer-related DVT and PE in middle-aged and older individuals without cardiovascular history or previous diagnosis in a population-based historical (retrospective) cohort. METHODS AND RESULTS: Potential venous thromboembolism (VTE) risk factors were registered at baseline in 15 807 women and 9996 men aged 44 to 74 years, who participated in the Malmö Diet and Cancer study (1991–1996). We excluded subjects with a previous history of VTE, cancer, a diagnosis of cardiovascular disease, or a diagnosis of cancer-associated VTE during follow-up. Patients were followed up from baseline until the first event of PE or DVT, death, or December 31, 2018. During the follow-up period, 365 (2.3%) women and 168 (1.7%) men were affected by first DVT, and 309 (2.0%) women and 154 (1.5%) men were affected by first PE. In the multivariable Cox regression models, the anthropometric obesity markers of weight, body mass index, waist and hip circumference, fat percentage, and muscle weight were in a dose-dependent way associated with DVT and PE among women but not men. In an analysis that included patients with cardiovascular disease and cancer-related VTE, the results were similar for women. For men, several obesity measures became significantly associated with PE or DVT but were weaker than in women, especially for DVT. CONCLUSIONS: Anthropometric obesity measures are more important risk factors for both DVT and PE among women than men, especially for individuals without cardiovascular history or previous diagnosis or cancer-related VTE.
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| 11. |
- Calling, Susanna, et al.
(author)
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Lung function, respiratory symptoms and incident venous thromboembolism during a 44-year follow-up
- 2023
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In: Thrombosis Update. - Oxford : Elsevier. - 2666-5727. ; 12
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Journal article (peer-reviewed)abstract
- Background: Chronic obstructive pulmonary disease (COPD) and infections are risk factors for venous thromboembolism (VTE), but the reasons behind the associations are not fully known. Few studies have investigated whether lung function and respiratory symptoms in individuals without COPD are associated with VTE. Objectives: To study the incidence of VTE in individuals without COPD and other major VTE risk factors, in relation to baseline lung function and respiratory symptoms, through a 44-year follow-up prospective cohort study. Methods: As part of a health screening program, a total of 20,253 men and 7361 women underwent a baseline examination from 1974 to 1992, including a spirometry test and a self-administered questionnaire about respiratory symptoms, e.g., chronic bronchitis, cough, phlegm, and dyspnoea. Lung function was assessed through quartiles of forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC). Through linkage with national registers, all individuals were followed for incidence of VTE. Results: Respiratory symptoms (cough and dyspnoea) at baseline were associated with an increased risk of incident VTE in women after adjustments for age, height, BMI, smoking status, varicose veins, and FEV1/FVC. The adjusted hazard ratio in relation to chronic bronchitis was 1.57 (95% confidence interval 1.17–2.11). Poor lung function was not associated with an increased risk of VTE after adjustments for potential confounders. Conclusion: Women with respiratory symptoms of cough and dyspnoea without COPD have an increased risk of VTE, independent of lung function and major VTE risk factors. Further studies are needed to confirm the association and to study the clinical applicability of the results. © 2023 The Authors
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| 12. |
- Camsund, Daniel, 1980-, et al.
(author)
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Time-resolved imaging-based CRISPRi screening
- 2020
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In: Nature Methods. - : NATURE PUBLISHING GROUP. - 1548-7091 .- 1548-7105. ; 17:1, s. 86-92
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Journal article (peer-reviewed)abstract
- DuMPLING (dynamic mu-fluidic microscopy phenotyping of a library before in situ genotyping) enables screening of dynamic phenotypes in strain libraries and was used here to study genes that coordinate replication and cell division in Escherichia coli. Our ability to connect genotypic variation to biologically important phenotypes has been seriously limited by the gap between live-cell microscopy and library-scale genomic engineering. Here, we show how in situ genotyping of a library of strains after time-lapse imaging in a microfluidic device overcomes this problem. We determine how 235 different CRISPR interference knockdowns impact the coordination of the replication and division cycles of Escherichia coli by monitoring the location of replication forks throughout on average >500 cell cycles per knockdown. Subsequent in situ genotyping allows us to map each phenotype distribution to a specific genetic perturbation to determine which genes are important for cell cycle control. The single-cell time-resolved assay allows us to determine the distribution of single-cell growth rates, cell division sizes and replication initiation volumes. The technology presented in this study enables genome-scale screens of most live-cell microscopy assays.
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| 13. |
- Ehrenberg, M., et al.
(author)
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Systems biology is taking off
- 2003
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In: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 13, s. 2475-2484
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Journal article (peer-reviewed)
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| 14. |
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| 15. |
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| 16. |
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| 17. |
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| 18. |
- Ghazvinian, R., et al.
(author)
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Is it safe to withhold long-term anticoagulation therapy in patients with small pulmonary emboli diagnosed by SPECT scintigraphy?
- 2016
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In: Thrombosis Journal. - : Springer Science and Business Media LLC. - 1477-9560. ; 14:1
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Journal article (peer-reviewed)abstract
- Background: The need for anticoagulation therapy (AC) in patients with subsegmental pulmonary embolism (SSPE) diagnosed by computed tomography of the pulmonary arteries (CTPA) has been questioned, as these patients run low risk for recurrent venous thromboembolism (VTE) during 3 months of follow-up. Whether this applies also to patients with small PE diagnosed with pulmonary scintigraphy has not yet been evaluated, however. Methods: We therefore retrospectively evaluated 54 patients (mean age 62 ± 19 years, 36 [67 %] women) with small PE diagnosed by ventilation/perfusion singe photon emission computed tomography (V/P SPECT) who did not receive conventional long-term AC. Results: More than half of our patients (36[67 %]) received less than 48 h of AC, 11 (20 %) patients were treated for 2-14 days, and 7 (13 %) for 15-30 days. The majority (28 [52 %]) of our patients had a non-low simplified pulmonary emboli severity index (S-PESI), and 7 (13 %) had malignancy. D-dimer was negative in 18 (33 %), positive in 10 (19 %), and not analyzed in 28 (52 %) patients. Phlebography of the lower extremities had been performed with negative result in one patient. During 90 days of follow up no deaths or PE occurred. Seven patients were readmitted to hospital, whereof two (2/54 [4 %]) were diagnosed with deep venous thrombosis (DVT) necessitating AC therapy. Conclusion: In conclusion, withholding longterm AC therapy in patients with SSPE diagnosed by V/P SPECT resulted in 4 % risk for recurrence of VTE during 90 days of follow up, and can therefore currently not be recommended.
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| 19. |
- Honarpardaz, Mohammadali, et al.
(author)
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Generic Automated Multi-function Finger Design
- 2016
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In: 2016 SECOND INTERNATIONAL CONFERENCE ON MECHANICAL ENGINEERING AND AUTOMATION SCIENCE (ICMEAS 2016). - : IOP PUBLISHING LTD.
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Conference paper (peer-reviewed)abstract
- Multi-function fingers that are able to handle multiple workpieces are crucial in improvement of a robot workcell. Design automation of multi-function fingers is highly demanded by robot industries to overcome the current iterative, time consuming and complex manual design process. However, the existing approaches for the multi-function finger design automation are unable to entirely meet the robot industries need. This paper proposes a generic approach for design automation of multi-function fingers. The proposed approach completely automates the design process and requires no expert skill. In addition, this approach executes the design process much faster than the current manual process. To validate the approach, multi-function fingers are successfully designed for two case studies. Further, the results are discussed and benchmarked with existing approaches.
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| 20. |
- Jones, Daniel, et al.
(author)
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Kinetics of dCas9 target search in Escherichia coli
- 2017
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In: Science. - : AMER ASSOC ADVANCEMENT SCIENCE. - 0036-8075 .- 1095-9203. ; 357:6358, s. 1420-1423
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Journal article (peer-reviewed)abstract
- How fast can a cell locate a specific chromosomal DNA sequence specified by a single-stranded oligonucleotide? To address this question, we investigate the intracellular search processes of the Cas9 protein, which can be programmed by a guide RNA to bind essentially any DNA sequence. This targeting flexibility requires Cas9 to unwind the DNA double helix to test for correct base pairing to the guide RNA. Here we study the search mechanisms of the catalytically inactive Cas9 (dCas9) in living Escherichia coli by combining single-molecule fluorescence microscopy and bulk restriction-protection assays. We find that it takes a single fluorescently labeled dCas9 6 hours to find the correct target sequence, which implies that each potential target is bound for less than 30 milliseconds. Once bound, dCas9 remains associated until replication. To achieve fast targeting, both Cas9 and its guide RNA have to be present at high concentrations.
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| 21. |
- Lawson, Michael J., et al.
(author)
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In situ genotyping of a pooled strain library after characterizing complex phenotypes
- 2017
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In: Molecular Systems Biology. - : EMBO. - 1744-4292 .- 1744-4292. ; 13:10
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Journal article (peer-reviewed)abstract
- In this work, we present a proof-of-principle experiment that extends advanced live cell microscopy to the scale of pool-generated strain libraries. We achieve this by identifying the genotypes for individual cells in situ after a detailed characterization of the phenotype. The principle is demonstrated by single-molecule fluorescence time-lapse imaging of Escherichia coli strains harboring barcoded plasmids that express a sgRNA which suppresses different genes in the E.coli genome through dCas9 interference. In general, the method solves the problem of characterizing complex dynamic phenotypes for diverse genetic libraries of cell strains. For example, it allows screens of how changes in regulatory or coding sequences impact the temporal expression, location, or function of a gene product, or how the altered expression of a set of genes impacts the intracellular dynamics of a labeled reporter.
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| 22. |
- Lipson-Smith, R., et al.
(author)
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Built environments for inpatient stroke rehabilitation services and care : A systematic literature review
- 2021
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In: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 11:8
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Journal article (peer-reviewed)abstract
- Objectives To identify, appraise and synthesise existing design evidence for inpatient stroke rehabilitation facilities; to identify impacts of these built environments on the outcomes and experiences of people recovering from stroke, their family/caregivers and staff. Design A convergent segregated review design was used to conduct a systematic review. Data sources Ovid MEDLINE, Scopus, Web of Science and Cumulative Index to Nursing and Allied Health Literature were searched for articles published between January 2000 and November 2020. Eligibility criteria for selecting studies Qualitative, quantitative and mixed-methods studies investigating the impact of the built environment of inpatient rehabilitation facilities on stroke survivors, their family/caregivers and/or staff. Data extraction and synthesis Two authors separately completed the title, abstract, full-text screening, data extraction and quality assessment. Extracted data were categorised according to the aspect of the built environment explored and the outcomes reported. These categories were used to structure a narrative synthesis of the results from all included studies. Results Twenty-four articles were included, most qualitative and exploratory. Half of the included articles investigated a particular aspect of the built environment, including environmental enrichment and communal areas (n=8), bedroom design (n=3) and therapy spaces (n=1), while the other half considered the environment in general. Findings related to one or more of the following outcome categories: (1) clinical outcomes, (2) patient activity, (3) patient well-being, (4) patient and/or staff safety and (5) clinical practice. Heterogeneous designs and variables of interest meant results could not be compared, but some repeated findings suggest that attractive and accessible communal areas are important for patient activity and well-being. Conclusions Stroke rehabilitation is a unique healthcare context where patient activity, practice and motivation are paramount. We found many evidence gaps that with more targeted research could better inform the design of rehabilitation spaces to optimise care. © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
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| 23. |
- Manderstedt, Eric, et al.
(author)
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Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults : A Population-Based Cohort Study
- 2022
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In: Journal of the American Heart Association. - : Wiley-Blackwell Publishing Ltd. - 2047-9980. ; 11:4
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Journal article (peer-reviewed)abstract
- BACKGROUND: Five classic thrombophilias have been recognized: factor V Leiden (rs6025), the prothrombin G20210A variant (rs1799963), and protein C, protein S, and antithrombin deficiencies. This study aimed to determine the thrombotic risk of classic thrombophilias in a cohort of middle-aged and older adults. METHODS AND RESULTS: Factor V Leiden, prothrombin G20210A and protein-coding variants in the PROC (protein C), PROS1 (protein S), and SERPINC1 (antithrombin) anticoagulant genes were determined in 29 387 subjects (born 1923–1950, 60% women) who participated in the Malmö Diet and Cancer study (1991–1996). The Human Gene Mutation Database was used to define 68 disease-causing mutations. Patients were followed up from baseline until the first event of venous thromboembolism (VTE), death, or Dec 31, 2018. Carriership (n=908, 3.1%) for disease-causing mutations in the PROC, PROS1, and SERPINC1 genes was associated with incident VTE: Hazard ratio (HR) was 1.6 (95% CI, 1.3–1.9). Variants not in Human Gene Mutation Database were not linked to VTE (HR, 1.1; 95% CI, 0.8–1.5). Heterozygosity for rs6025 and rs1799963 was associated with incident VTE: HR, 1.8 (95% CI, 1.6–2.0) and HR, 1.6 (95% CI, 1.3–2.0), respectively. The HR for carrying 1 classical thrombophilia variant was 1.7 (95% CI, 1.6–1.9). HR was 3.9 (95% CI, 3.1–5.0) for carriers of ≥2 thrombophilia variants. CONCLUSIONS: The 5 classic thrombophilias are associated with a dose-graded risk of VTE in middle-aged and older adults. Disease-causing variants in the PROC, PROS1, and SERPINC1 genes were more common than the rs1799963 variant but the conferred genetic risk was comparable with the rs6025 and rs1799963 variants.
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| 24. |
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| 25. |
- Manderstedt, Eric, et al.
(author)
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Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study
- 2022
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In: Journal of Thrombosis and Haemostasis. - : Elsevier BV. - 1538-7933 .- 1538-7836. ; 20:4, s. 929-935
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Journal article (peer-reviewed)abstract
- Background: The protein C anticoagulant system plays a key role in maintaining the hemostatic balance. Although several studies have identified thrombomodulin gene (THBD) variants among venous thromboembolism (VTE) patients, the role of THBD in relation to VTE in humans remains to be clarified. Objectives: This study aimed to determine the thrombotic risk of rare and common THBD variants in a large population-based cohort of middle-aged and older adults. Patients/Methods: The exome sequence of THBD was analyzed for qualifying variants in 28,794 subjects (born 1923–1950, 60% women), who participated in the Malmö Diet and Cancer study (1991–1996). Patients were followed from baseline until the first event of VTE, death, or 2018. Qualifying variants were defined as loss-of-function or non-benign (PolyPhen-2) missense variants with minor allele frequency <0.1%. Results: The single common coding variant rs1042579 was not associated with incident VTE. Sixteen rare variants were classified as qualifying and included in collapsing analysis. Seven individuals with VTE compared to 24 individuals without VTE carried one qualifying variant. Cox multivariate regression analysis adjusted for age, sex, body mass index, systolic blood pressure, smoking and alcohol consumption, rs6025, rs1799963, and the top two eigenvectors from a principal components analysis showed a hazard ratio of 3.0 (95% confidence interval 1.4–6.3) for the rare qualifying variants. The distributions of qualifying variants in THBD showed a difference for individuals with and without incident VTE indicating a possible position effect. Conclusions: Rare qualifying THBD variants were associated with VTE, suggesting that rare variants in THBD contribute to development of VTE.
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| 26. |
- Manderstedt, Eric, et al.
(author)
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Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults : A Population-Based Cohort Study
- 2022
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In: Thrombosis and Haemostasis. - : Georg Thieme Verlag KG. - 0340-6245 .- 2567-689X. ; 122:8, s. 1326-1332
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Journal article (peer-reviewed)abstract
- Background The protein C (PC) anticoagulant system has a key role in maintaining hemostatic balance. One missense (Ser219Gly) variant in the PC receptor (PROCR) was associated with venous thromboembolism (VTE) in genome-wide association studies. Objectives This study aimed to determine the thrombotic risk of rare and common PROCR variants in a large population-based cohort of middle-aged and older adults. Methods The exonic sequence of PROCR was analyzed for the Ser219Gly variant and other qualifying variants in 28,794 subjects (born 1923-1950, 60% women) without previous VTE, who participated in the Malmö Diet and Cancer study (1991-1996). Incidence of VTE was followed up until 2018. Qualifying variants were defined as loss-of-function or nonbenign (PolyPhen-2) missense variants with minor allele frequencies (MAFs) <0.1%. Results Re-sequencing identified 36 PROCR variants in the study population (26,210 non-VTE exomes and 2,584 VTE exomes), 11 synonymous, 22 missense, and three loss-of-function variants. Kaplan-Meier analysis of the known Ser219Gly variant (rs867186) showed that homozygosity for this variant increased the risk of disease, whereas heterozygosity showed no effect. Cox multivariate regression analysis revealed an adjusted hazard ratio (HR) of 1.5 (95% confidence interval [CI]: 1.1-2.0). Fifteen rare variants were classified as qualifying and were included in collapsing analysis (burden test and SKAT-O). They did not contribute to risk. However, a Arg113Cys missense variant (rs146420040; MAF = 0.004) showed an increased VTE risk (HR = 1.3; 95% CI: 1.0-1.9). Conclusion Homozygosity for the Ser219Gly variant and a previously identified functional PROCR variant (Arg113Cys) was associated with VTE. Other variants did not contribute to VTE.
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| 27. |
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| 28. |
- Mauritzson, Elin, et al.
(author)
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Older Adults' Experiences, Worries and Preventive Measures Regarding Home Hazards : A Survey on Home Safety in Sweden
- 2023
-
In: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1661-7827 .- 1660-4601. ; 20:2
-
Journal article (peer-reviewed)abstract
- Home safety is important for preventing injuries and accidents among older adults living at home. Feeling safe at home is also essential for older adults' well-being. Thus, this study aimed to explore older adults' perceptions of safety in their homes by examining their experiences, worries and preventive measures in relation to a range of potential home-based health and safety hazards. The study was a national cross-sectional telephone survey of 400 randomly selected adults over 70 years of age living at home in ordinary housing in Sweden. Participants were asked for their experience of, worry about, and preventive measures taken regarding fifteen home hazards. Data were also collected on background variables including age, health, and cohabitation status. Falls and stab/cut injuries were the most experienced hazards and worry was highest for burglary and falls, while preventive measures were most common for fire and burglary. While older adults' experience and worry regarding home hazards were associated with preventive measures, these associations were not strong and other factors were associated with preventive behaviour. Further identification of the main determinants of older adults' preventive behaviour can contribute to policy for effectively reducing home accidents.
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| 29. |
- Memon, Ashfaque A., et al.
(author)
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Identification of novel diagnostic biomarkers for deep venous thrombosis
- 2018
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In: British Journal of Haematology. - : Wiley. - 0007-1048. ; 181:3, s. 378-385
-
Journal article (peer-reviewed)abstract
- The combination of a negative D-dimer and a Wells score can rule out, but not confirm, a diagnosis of deep venous thrombosis (DVT). We aimed to identify new diagnostic biomarkers for DVT and to investigate their relationship with hypercoagulability markers [D-dimer and activated protein C-protein C inhibitor (APC-PCI) complex]. We screened 92 cardiovascular-specific proteins in plasma samples from 45 confirmed DVT patients and 45 age- and sex-matched non-DVT patients selected from a prospective multicentre diagnostic management study (SCORE) by Proseek Multiplex CVDIII96×96. Plasma levels of 30 proteins were significantly different between DVT and non-DVT patients. After Bonferroni correction, plasma levels of seven proteins: P-selectin, transferrin receptor protein 1, von Willebrand factor, tissue factor pathway inhibitor, osteopontin (OPN), bleomycin hydrolase and ST2 protein remained significantly different. The area under curve (AUC) for these proteins ranged from 0·70 to 0·84. Furthermore, all seven identified proteins were significantly associated with markers of hypercoagulability. A combination of OPN and APC-PCI had the best ability to discriminate DVT from non-DVT patients (AUC = 0·94; sensitivity = 89% and specificity = s84%). In conclusion, we identified multiple proteins associated with markers of hypercoagulability and with a potential to become novel diagnostic biomarkers for DVT.
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| 30. |
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| 31. |
- Nordin, Susanna, et al.
(author)
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A 5-day codesign sprint to improve housing decisions of older adults : lessons learned from Sweden and the Netherlands
- 2023
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In: International Journal of Social Research Methodology. - : Routledge. - 1364-5579 .- 1464-5300.
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Journal article (peer-reviewed)abstract
- The use of codesign methods is becoming increasingly common practice to involve and engage research participants in health research. Through codesign, end-users and stakeholders can contribute their own perspectives and experiences to solve a common problem. This article describes how a 5-day codesign sprint can be used to find solutions to improve housing decisions of older adults. Based on case studies in Sweden and the Netherlands, we identified similarities, differences, and patterns across the two contexts. By sharing methodological experiences across projects, opportunities are created for other researchers to build on the method and to integrate a creative process into traditional health research methods. We conclude that a 5-day codesign sprint can effectively and efficiently engage older adults and people with dementia in creative housing decision solutions, and we provide recommendations for future codesign sprint projects. © 2023 Informa UK Limited, trading as Taylor & Francis Group.
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| 32. |
- Pedersen, K., Zavialov, A., Pavlov, M., Elf, J., Gerdes, K. and Ehrenberg, M.
(author)
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The bacterial toxin RelE displays codon specific cleavage of mRNAs in the ribosomal A-site.
- 2003
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In: Cell. ; 112, s. 131-140
-
Journal article (peer-reviewed)
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| 33. |
- Salim, S., et al.
(author)
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Clinical implications of CT findings in mesenteric venous thrombosis at admission
- 2018
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In: Emergency Radiology. - : Springer Science and Business Media LLC. - 1070-3004 .- 1438-1435. ; 25:4, s. 407-413
-
Journal article (peer-reviewed)abstract
- Purpose: The main aim of this study was to evaluate the association of computed tomography (CT) findings at admission and bowel resection rate in patients with mesenteric venous thrombosis (MVT). It was hypothesized that abnormal intestinal findings on CT were associated with a higher bowel resection rate. Methods: Retrospective study of MVT patients treated between 2004 and 2017. CT images at admission and at follow-up were scrutinized according to a predefined protocol. Successful recanalization was defined as partial or complete recanalization of the portomesenteric venous thrombosis at the latest CT follow-up (n = 70). Results: We studied 102 patients (median age 58 years, 61 men). Lifelong anticoagulation was initiated in 64 patients, and bowel resection rate was 17%. No referral letter indicated suspicion of MVT, whereas three indicated suspected intestinal ischemia. Previous venous thromboembolism was associated with increased bowel resection rate (p = 0.049). No patient with acute pancreatitis (n = 17) underwent bowel resection (p = 0.068). The presence of mesenteric oedema (p = 0.014), small bowel wall oedema (p < 0.001), small bowel dilatation (p = 0.005), and ascites (p = 0.021) were associated with increased bowel resection rate. Small bowel wall oedema remained as an independent risk factor associated with bowel resection (OR 15.8 [95% CI 3.2–77.2]). Successful thrombus recanalization was achieved in 66% of patients. Conclusion: The presence of abnormal intestinal findings secondary to MVT confers an excess risk of need of bowel resection due to infarction. Responsible physicians should therefore scrutinize the CT images at diagnosis together with the radiologist to better tailor clinical surveillance.
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| 34. |
- Salim, S, et al.
(author)
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Improved Prognosis and Low Failure Rate with Anticoagulation as First-Line Therapy in Mesenteric Venous Thrombosis
- 2018
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In: World Journal of Surgery. - : Springer Science and Business Media LLC. - 1432-2323 .- 0364-2313. ; 42:11, s. 3803-3811
-
Journal article (peer-reviewed)abstract
- BACKGROUND: Monotherapy with anticoagulation has been considered as first-line therapy in patients with mesenteric venous thrombosis (MVT). The aim of this study was to evaluate outcome, prognostic factors, and failure rate of anticoagulation as monotherapy, and to identify when bowel resection was needed.METHODS: Retrospective study of consecutive patients with MVT diagnosed between 2000 and 2015.RESULTS: The overall incidence rate of MVT was 1.3/100,000 person-years. Among 120 patients, seven died due to autopsy-verified MVT without bowel resection and 15 underwent immediate bowel resection without prior anticoagulation therapy. The remaining 98 patients received anticoagulation monotherapy, whereof 83 (85%) were treated successfully. Fifteen patients failed on anticoagulation monotherapy, of whom seven underwent bowel resection and eight endovascular therapy. Endovascular therapy was followed by bowel resection in three patients. Two late bowel resections were performed due to intestinal stricture. The 30-day mortality rate was 19.0% in the former (2000-2007) and 3.2% in the latter (2008-2015) part of the study period (p = 0.006). Age ≥75 years (OR 12.4, 95% CI [2.5-60.3]), management during the former as opposed to the latter time period (OR 8.4, 95% CI [1.3-54.7]), and renal insufficiency at admission (OR 8.0, 95% CI [1.2-51.6]) were independently associated with increased mortality in multivariable analysis.CONCLUSIONS: Short-term prognosis in patients with MVT has improved. Contemporary data show that monotherapy with anticoagulation is an effective first choice in MVT patients.
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| 35. |
- Shannon, Michelle M, et al.
(author)
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Application of Theory in Studies of Healthcare Built Environment Research
- 2020
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In: Health Environments Research & Design Journal. - : SAGE Publications. - 1937-5867 .- 2167-5112. ; 13:3, s. 154-170
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Journal article (peer-reviewed)abstract
- We aimed to examine the nature and extent of theory application in studies of built environment attributes and impact on adults in healthcare facilities. Many varied theories are described when providing the rationale for research into built environments in healthcare. Uncertainty exists around the right theory to frame a research question, alignment with measurement tools, and whether healthcare setting makes a difference. This poses challenges to researchers seeking to build the evidence base for built environment design that benefits patients and staff. Our multidisciplinary review team scoped the literature to determine how theories are used to inform research investigating the impact of the built environment of healthcare on adults. When researchers recorded theory at development of the study question, in data collection, and in data analysis/interpretation, we called this explicitly theory-based application. Synthesis occurred using a narrative approach. Overall, we found 17 diverse theories named in studies. Explicitly theory-based use occurred with eight theories, comprising 47% of all theories used. Five theories were named more frequently in studies out of all theories identified. In 20% of studies, theory was not used explicitly during the research inquiry. We argue that researchers must continue to strive toward explicit use of theories, similar to development of other health interventions that employ multifactorial components.
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| 36. |
- Shannon, Michelle M., et al.
(author)
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Can the physical environment itself influence neurological patient activity?
- 2019
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In: Disability and Rehabilitation. - : Informa UK Limited. - 1464-5165 .- 0963-8288. ; 41:10, s. 1177-1189
-
Journal article (peer-reviewed)abstract
- Purpose: To evaluate if a changed physical environment following redesign of a hospital ward influenced neurological patient physical and social activity. Methods: A “before and after” observational design was used that included 17 acute neurological patients pre-move (median age 77 (IQR 69–85) years Ward A and 20 post-move (median age 70 (IQR 57–81) years Ward B. Observations occurred for 1 day from 08.00–17.00 using Behavioral Mapping of patient physical and social activity, and location of that activity. Staff and ward policies remained unchanged throughout. An Environmental Description Checklist of each ward was also completed. Results: Behavioral Mapping was conducted pre-/post-move with a total of 801 Ward A and 918 Ward B observations. Environmental Description Checklists showed similarities in design features in both neurological wards with similar numbers of de-centralized nursing stations, however there were more single rooms and varied locations to congregate in Ward B (30% more single-patient rooms and separate allied health therapy room). Patients were alone >60% of time in both wards, although there was more in bed social activity in Ward A and more out of bed social activity in Ward B. There were low amounts of physical activity outside of patient rooms in both wards. Significantly more physical activity occurred in Ward B patient rooms (median = 47%, IQR 14–74%) compared to Ward A (median = 2% IQR 0–14%), Wilcoxon Rank Sum test z = −3.28, p = 0.001. Conclusions: Overall, patient social and physical activity was low, with little to no use of communal spaces. However we found more physical activity in patient rooms in the Ward B environment. Given the potential for patient activity to drive brain reorganization and repair, the physical environment should be considered an active factor in neurological rehabilitation and recovery.Implications for Rehabilitation Clinicians should include consideration of the impact of physical environment on physical and social activity of neurological patients when designing therapeutic rehabilitation environments. Despite architectural design intentions patient and social activity opportunities can be limited. Optimal neurological patient neuroplasticity and recovery requires sufficient environmental challenge, however current hospital environments for rehabilitation do not provide this.
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| 37. |
- Sturge, J., et al.
(author)
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Exploring assets of people with memory problems and dementia in public space : A qualitative study
- 2021
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In: Wellbeing, Space and Society. - : Elsevier B.V.. - 2666-5581. ; 2
-
Journal article (peer-reviewed)abstract
- Background: With more people with dementia living at home, neighborhoods and public spaces are being recognized as dementia care settings. Further, there is a shift from emphasizing the loss and decline of a person with dementia to a focus on strength and capacity. The aim of this paper is to identify assets that contribute to the well-being of people with memory problems and dementia living in a community context in the Netherlands. Methods: A deductive content analysis, based on the Asset-Based Community Development (ABCD) framework, was used to analyze qualitative data collected through walking interviews and in-depth interviews with eight participants. The participants included six women and two men and ranged from 59 to 93 years of age. Findings: We identified an inventory of physical, social and institutional assets that contribute to participants’ well-being. These assets are divided into two categories that relate to well-being: a) assets to navigate public space, and b) assets to support social inclusion and encounters. We observed that it was not one isolated type of asset that contributed to well-being, but more a combination of different assets. Moreover, we found that participants used assets to gain a sense of relief, confidence and support their sense of belonging and inclusion. Conclusion: These findings inform an asset-based perspective of people living with memory problems and dementia that can promote engagement to support dementia-informed community development, public space design, and healthcare innovations to improve the well-being of people with a range of memory problems who live at home. © 2021 The Author(s)
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| 38. |
- Wang, Xiao, et al.
(author)
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Association of Circulating Long Noncoding 7S RNA with Deep Vein Thrombosis
- 2023
-
In: Seminars in Thrombosis and Hemostasis. - 1098-9064. ; 49:7, s. 702-708
-
Journal article (peer-reviewed)abstract
- Mitochondrial dysfunction is a recognized factor in the pathogenesis of deep vein thrombosis (DVT). The role of 7S RNA, a long noncoding RNA that plays an important role in mitochondrial function, in DVT remains unclear. In this study, we aimed to investigate the potential use of 7S RNA as a biomarker in DVT. Plasma samples were obtained from 237 patients (aged 16-95 years) with suspected DVT recruited in a prospective multicenter management study (SCORE) where 53 patients were objectively confirmed with a diagnosis of DVT and the rest were diagnosed as non-DVT. 7S RNA was measured using quantitative real-time polymerase chain reaction in plasma samples. The plasma expression of 7S RNA was significantly lower in DVT compared with non-DVT (0.50 vs. 0.95, p = 0.043). With the linear regression analysis, we showed that the association between the plasma expression of 7S RNA and DVT (β = -0.72, p = 0.007) was independent of potential confounders. Receiver-operating characteristic curve analysis showed the area under the curve values of 0.60 for 7S RNA. The findings of the present study showed a notable association between 7S RNA and DVT. However, further investigations are needed to fully elucidate the exact role of 7S RNA in the pathophysiology of DVT and its diagnostic value.
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| 39. |
- Wang, Xiao, et al.
(author)
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Diagnostic potential of plasma microRNA signatures in patients with deep-vein thrombosis
- 2016
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In: Thrombosis and Haemostasis. - 0340-6245. ; 116:2, s. 328-336
-
Journal article (peer-reviewed)abstract
- For excluding deep-vein thrombosis (DVT), a negative D-dimer and low clinical probability are used to rule out DVT. Circulating microR-NAs (miRNAs) are stably present in the plasma, serum and other body fluids. Their diagnostic function has been investigated in many diseases but not in DVT. The aims of present study were to assess the diagnostic ability of plasma miRNAs in DVT and to examine their correlation with known markers of hypercoagulability, such as D-dimer and APC-PCI complex. Plasma samples were obtained from 238 patients (aged 16-95 years) with suspected DVT included in a prospective multicentre management study (SCORE). We first performed miRNA screening of plasma samples from three plasma pools containing plasma from 12 patients with DVT and three plasma pools containing plasma from 12 patients without DVT using a microRNA Ready-to-use PCR Panel comprising 742 miRNA primer sets. Thirteen miRNAs that differentially expressed were further investigated by quantitative real-time (qRT)-PCR in the entire cohort. The plasma level of miR-424-5p (p=0.01) were significantly higher, whereas the levels of miR-136-5p (p=0.03) were significantly lower in DVT patients compared to patients without DVT. Receiver-operating characteristic curve analysis showed the area under the curve (AUC) values of 0.63 for miR-424-5p and 0.60 for miR-136-5p. The plasma level of miR-424-5p was associated with both D-dimer and APC-PCI complex levels (p<0.0001 and p=0.001, respectively). In conclusions, these findings indicate that certain miRNAs are associated with DVT and markers of hypercoagulability, though their diagnostic abilities are probably too low.
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| 40. |
- Zarrouk, M., et al.
(author)
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Testing for thrombophilia in mesenteric venous thrombosis - Retrospective original study and systematic review
- 2017
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In: Best Practice and Research in Clinical Gastroenterology. - : Elsevier BV. - 1521-6918. ; 31:1, s. 39-48
-
Research review (peer-reviewed)abstract
- The aim was to perform a local study of risk factors and thrombophilia in mesenteric venous thrombosis (MVT), and to review the literature concerning thrombophilia testing in MVT. Patients hospitalized for surgical or medical treatment of MVT at our center 2000-2015. A systematic review of observational studies was performed. In the local study, the most frequently identified risk factor was Factor V Leiden mutation. The systematic review included 14 original studies. The highest pooled percentage of any inherited thrombophilic factor were: Factor V Leiden mutation 9% (CI 2.9-16.1), prothrombin gene mutation 7% (CI 2.7-11.8). The highest pooled percentage of acquired thrombophilic factors were JAK2 V617F mutation 14% (CI -1.9-28.1). The wide range of frequency of inherited and acquired thrombophilic factors in different populations indicates the necessity to relate these factors to background population based data in order to estimate their overrepresentation in MVT. There is a need to develop guidelines for when and how thrombophilia testing should be performed in MVT.
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| 41. |
- Zöller, Bengt, et al.
(author)
-
Genetic risk factors for venous thromboembolism
- 2020
-
In: Expert Review of Hematology. - 1747-4086 .- 1747-4094. ; 13:9, s. 971-981
-
Journal article (peer-reviewed)abstract
- INTRODUCTION: Venous thromboembolism (VTE) is a complex disease that aggregates in families. Both acquired and genetic risk factors are important. Proper recognition and management of high-risk individuals are important.AREAS COVERED: The genetic risk factors for VTE, the clinical consequences, and future perspectives are summarized. Classical thrombophilia i.e. factor V Leiden (rs6025), the prothrombin G20210A mutation (rs1799963), deficiencies of antithrombin, protein C, and protein S and the recent findings from genome wide association studies (GWAS), transcriptome-wide association studies (TWAS), genetic risk score (GRS), VTE candidate genes, expression studies, animal studies, studies using next generation sequencing, pathway analysis, and clinical implications are discussed.EXPERT OPINION: Screening of inherited thrombophilia should be performed in special cases. Identification of strong risk variants might affect the management. The increasing number of genetic risk variants is likely to change management of VTE.
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| 42. |
- Zöller, Bengt, et al.
(author)
-
Genetic risk factors for venous thromboembolism
- 2020
-
In: Expert Review of Hematology. - : Informa UK Limited. - 1747-4086 .- 1747-4094. ; 13:9, s. 971-981
-
Research review (peer-reviewed)abstract
- Introduction: Venous thromboembolism (VTE) is a complex disease that aggregates in families. Both acquired and genetic risk factors are important. Proper recognition and management of high-risk individuals are important. Areas covered: The genetic risk factors for VTE, the clinical consequences, and future perspectives are summarized. Classical thrombophilia i.e., factor V Leiden (rs6025), the prothrombin G20210A mutation (rs1799963), deficiencies of antithrombin, protein C, and protein S and the recent findings from genome wide association studies (GWAS), transcriptome-wide association studies (TWAS), genetic risk score (GRS), VTE candidate genes, expression studies, animal studies, studies using next generation sequencing, pathway analysis, and clinical implications are discussed. Expert opinion: Screening of inherited thrombophilia should be performed in special cases. Identification of strong risk variants might affect the management. The increasing number of genetic risk variants is likely to change management of VTE.
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| 43. |
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| 44. |
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